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Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene

✍ Scribed by Julie Maynard; Michael Krawczak; M. Upadhyaya


Publisher
Springer
Year
1997
Tongue
English
Weight
30 KB
Volume
99
Category
Article
ISSN
0340-6717

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Neurofibromatosis type 1 ("1) is one of the most common inherited disorders, with an incidence of 1 in 3,000. We screened a total of 320 unrelated NF1 patients for mutations in exon 37 of the NF1 gene. Six independent mutations were identified, of which three are novel, and these include a recurrent